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Article

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.

International journal of molecular sciences - 1 Feb 2024

Nappi Francesco

Abstract excerpt

The use of next-generation sequencing has provided new insights into the causes and mechanisms of congenital heart disease (CHD). Examinations of the whole exome sequence have detected detrimental gene variations modifying single or contiguous nucleotides, which are characterised as pathogenic based on statistical assessments of families and correlations with congenital heart disease, elevated expression during...

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Identifiers

PMID: 38339013
DOI: 10.3390/ijms25031734
PMCID: PMC10855915

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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